LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Moustafa S MagliyahFaisal AlmarekSawsan R NowilatyLama Al-AbdiFowzan S AlkurayaMohammed AlowainPatrik SchatzTalal AlfaadhelArif O KhanSulaiman M Alsulaiman

Published in: Retina (Philadelphia, Pa.) (2023)

LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.

Keyphrases

early onset
optic nerve
late onset
optical coherence tomography
case report
risk assessment
rare case